Technical Validation of a Tm Biosciences Luminex-Based Multiplex Assay for Detecting the American College of Medical Genetics Recommended Cystic Fibrosis Mutation Panel

The American College of Medical Genetics (ACMG) and the American College of Obstetrics and Gynecology have recommended population-based carrier screening for cystic fibrosis to include 23 mutations and 5 polymorphisms in the cystic fibrosis transmembrane regulator gene(CFTR). We estimate 20% of all...

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Detalhes bibliográficos
Main Authors: Strom, Charles M., Janeszco, Richard, Quan, Franklin, Wang, Sheng-biao, Buller, Arlene, McGinniss, Matthew, Sun, Weimin
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2006
Assuntos:
Regular Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867610/
https://ncbi.nlm.nih.gov/pubmed/16825511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2006.050115
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